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Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation.
medRxiv [Preprint]. 2024 Mar 7:2024.03.05.24303792. doi: 10.1101/2024.03.05.24303792.
medRxiv. 2024.
PMID: 38496498
Free PMC article.
Preprint.
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.
LaFlamme CW, Rastin C, Sengupta S, Pennington HE, Russ-Hall SJ, Schneider AL, Bonkowski ES, Almanza Fuerte EP, Galey M, Goffena J, Gibson SB, Allan TJ, Nyaga DM, Lieffering N, Hebbar M, Walker EV, Darnell D, Olsen SR, Kolekar P, Djekidel N, Rosikiewicz W, McConkey H, Kerkhof J, Levy MA, Relator R, Lev D, Lerman-Sagie T, Park KL, Alders M, Cappuccio G, Chatron N, Demain L, Genevieve D, Lesca G, Roscioli T, Sanlaville D, Tedder ML, Hubshman MW, Ketkar S, Dai H, Worley KC, Rosenfeld JA, Chao HT; Undiagnosed Diseases Network; Neale G, Carvill GL; University of Washington Center for Rare Disease Research; Wang Z, Berkovic SF, Sadleir LG, Miller DE, Scheffer IE, Sadikovic B, Mefford HC.
LaFlamme CW, et al. Among authors: goffena j.
medRxiv [Preprint]. 2023 Oct 12:2023.10.11.23296741. doi: 10.1101/2023.10.11.23296741.
medRxiv. 2023.
PMID: 37873138
Free PMC article.
Preprint.
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Loss of Elp1 perturbs histone H2A.Z and the Notch signaling pathway.
Cameron B, Lehrmann E, Chih T, Walters J, Buksch R, Snyder S, Goffena J, Lefcort F, Becker KG, George L.
Cameron B, et al. Among authors: goffena j.
Biol Open. 2021 Sep 15;10(9):bio058979. doi: 10.1242/bio.058979. Epub 2021 Sep 30.
Biol Open. 2021.
PMID: 34590699
Free PMC article.
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Elongator and codon bias regulate protein levels in mammalian peripheral neurons.
Goffena J, Lefcort F, Zhang Y, Lehrmann E, Chaverra M, Felig J, Walters J, Buksch R, Becker KG, George L.
Goffena J, et al.
Nat Commun. 2018 Mar 1;9(1):889. doi: 10.1038/s41467-018-03221-z.
Nat Commun. 2018.
PMID: 29497044
Free PMC article.
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Inhibition of yeast-to-filamentous growth transitions in Candida albicans by a small molecule inducer of mammalian apoptosis.
Goffena J, Toenjes KA, Butler DK.
Goffena J, et al.
Yeast. 2018 Mar;35(3):291-298. doi: 10.1002/yea.3287. Epub 2017 Nov 29.
Yeast. 2018.
PMID: 29048745
Free PMC article.
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The GRR1 gene of Candida albicans is involved in the negative control of pseudohyphal morphogenesis.
Butler DK, All O, Goffena J, Loveless T, Wilson T, Toenjes KA.
Butler DK, et al. Among authors: goffena j.
Fungal Genet Biol. 2006 Aug;43(8):573-82. doi: 10.1016/j.fgb.2006.03.004. Epub 2006 May 26.
Fungal Genet Biol. 2006.
PMID: 16730201
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